Crisponi/Cold Induced Sweating Syndrome Type 1 With a Private Cytokine Receptor Like Factor 1 (CRLF1) Mutation in an Indian Family

Crisponi/cold induced sweating syndrome type 1 (CS/CISS1; Mendelian Inheritance in Man [MIM]#272430), a rare autosomal recessive disorder, ispossibly under-recognised due to its complex phenotype with likely misinterpretation of symptoms. Worldwide, there are fewer than 100 reported cases and we present the second Indian patient with a CRLF1 genetic mutation.